Dad Darren is so desperate to find a cure for his daughter he is flying all over the world to meet with experts

Darren and air hostess Amanda initially struggled to digest it – especially as Sophia was such a healthy, active little girl.

“Sanfilippo is pretty much hidden for the first few years,” Darren said.

“Even when Sophia was diagnosed, there were no major problems or symptoms.

“To go from thinking she was fine to having a terminal illness was hard to take.

AN ALZHEIMER'S-LIKE DISEASE

IN 2009 scientists at the University of California, Los Angeles made a surprising discovery while investigating the causes of Sanfilippo syndrome.

They discovered key proteins, that are usually seen in patients with Alzheimer’s and other forms of dementia, were present in people with the rare genetic condition.

Sanfilippo syndrome affects around one in every 100,000 people, and is caused by a recessive gene.

This means if both parents carry the gene, there is a one in four chance of their offspring inherting the defective gene from each parent – and being diagnosed with the condition.

The disease progresses in each child differently, in some it is much faster than others.

Over time a child’s language and ability to understand will be lost, along with their memory.

They will begin to slow down and eventually it is likely they will lose the ability to walk.

The UCLA scientists noted most sufferers will pass away before they reach 20.

Their discovery, that P-tau proteins in the brain play a role, mean people with Sanfilippo could one day benefit from the wealth of research into Alzheimer’s disease.

At the time of their findings, published in the journal Proceedings of the National Academy of Sciences, they wrote: “With the increasing incidence of Alzheimer’s disease, we expect to see new drugs developed to prevent these neurofibrillary tangles or dissolve them.

“Our findings suggest those treatments could also benefit patients with this rare genetic disorder.”

The couple have set up a charity to fund research into the condition, that affects around one in every 100,000 people

“The amazing thing is, it can stop the whole process and, if caught early, even reverse some of the symptoms.

“It’s early days, as to go through trials and be licensed takes years, but we believe there’s something out there to save Sophia. “We have to. We were told there’s no cure, but we’re not willing to accept that.

“And if there’s one out there, we’re determined to find it.”

At the moment, Sophia is progressing well and showing little signs of the illness.

“Her speech is a little behind and she struggles to focus her attention on a task for any more than a few minutes,” Amanda said.

We’re holding on to hope and living for the moment. If it’s going to be a short life, we’re determined to make the most of it

Darren ScottSophia's dad

“Cognitively, she’s a few years behind.

“But she’s attending mainstream school and progressing. As long as she’s progressing, we know she’s beating it.

“Of course that could all change in a heartbeat, but it’s good news for now.”

The family are now turning their efforts to making lots of memories with Sophia .

Dad Darren said: “We could wrap her up in cotton wool, but what would be the point?

“We’re holding on to hope and living for the moment.

“If it’s going to be a short life, we’re determined to make the most of it.”

Darren and Amanda have set up a charity, Hundreds of Promises, to fund research into Sophia’s condition – and to raise money for any adaptations she may need to help her live in future.

To date they have raised £40,000.

We pay for your stories! Do you have a story for The Sun Online news team? Email us at tips@the-sun.co.uk or call 0207 782 4368